Abstract:
:In this article the role of LH receptor gene mutations in patients with aberrant sex differentiation is discussed. In a dominant autosomal familial form of precocious puberty in boys (familial male-limited precocious puberty) LH receptor gene mutations have been identified. These single amino acid changes, mostly found in the sixth transmembrane helix and the third intracellular loop of the transmembrane domain of the LH receptor, cause constitutive activation of LH receptor protein without the hormone present, resulting in precocious production of testosterone by the testicular Leydig cells. The large number of activating LH receptor mutations have allowed more precise molecular modeling of the LH receptor protein. In a rare hereditary form of 46,XY male pseudohermaphroditism known as Leydig cell hypoplasia, LH receptor gene mutations have been identified that completely or partially inactivate the LH receptor protein. Large gene deletions cause complete absence of the LH receptor protein, whereas other, more subtle missense mutations prevent the receptor from assuming an active conformation.
journal_name
Semin Reprod Medjournal_title
Seminars in reproductive medicineauthors
Themmen AP,Verhoef-Post Mdoi
10.1055/s-2002-35384keywords:
subject
Has Abstractpub_date
2002-08-01 00:00:00pages
199-204issue
3eissn
1526-8004issn
1526-4564journal_volume
20pub_type
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journal_title:Seminars in reproductive medicine
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journal_title:Seminars in reproductive medicine
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journal_title:Seminars in reproductive medicine
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journal_title:Seminars in reproductive medicine
pub_type: 杂志文章,评审
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pub_type: 历史文章,杂志文章,评审
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journal_title:Seminars in reproductive medicine
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journal_title:Seminars in reproductive medicine
pub_type: 杂志文章,评审
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abstract::Assisted reproductive techniques have revolutionized the treatment of male reproductive failure, allowing biological fatherhood to be achieved by many men that nature would have never permitted. As we are able to help more and more couples with our therapies, the genetic basis of the man's spermatogenic, anatomical, o...
journal_title:Seminars in reproductive medicine
pub_type: 杂志文章,评审
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journal_title:Seminars in reproductive medicine
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abstract::Over the past decade there has been a resurgence of interest in the culture media used in clinical in vitro fertilization. Unfortunately, during this time more confusion than consensus appears to have developed regarding the composition of these media. In order to facilitate a clearer understanding of this field, it i...
journal_title:Seminars in reproductive medicine
pub_type: 杂志文章,评审
doi:10.1055/s-2000-12559
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journal_title:Seminars in reproductive medicine
pub_type: 杂志文章,评审
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journal_title:Seminars in reproductive medicine
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journal_title:Seminars in reproductive medicine
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abstract::In recent years, there has been increasing concern regarding the safety of in vitro fertilization (IVF) because of the potential health impact on these infants. Multiple pregnancy contributes the vast majority of morbidity associated with IVF and, initially, many thought that adverse outcomes after IVF were solely att...
journal_title:Seminars in reproductive medicine
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journal_title:Seminars in reproductive medicine
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journal_title:Seminars in reproductive medicine
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